nsv3924576
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:25,551,555
- Description:GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 60195 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 60052 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 15342 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924576 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 96,609,994 | 122,161,548 |
| nsv3924576 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,057,870 | 122,482,694 |
| nsv3924576 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 97,164,591 | 122,524,393 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147433 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139465.5, VCV000150641.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147433 | Submitted genomic | NC_000006.12:g.(?_ 96609994)_(1221615 48_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 96,609,994 | 122,161,548 |
| nssv15147433 | Submitted genomic | NC_000006.11:g.(?_ 97057870)_(1224826 94_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,057,870 | 122,482,694 |
| nssv15147433 | Submitted genomic | NC_000006.10:g.(?_ 97164591)_(1225243 93_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 97,164,591 | 122,524,393 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147433 | GRCh37: NC_000006.11:g.(?_97057870)_(122482694_?)del, GRCh38: NC_000006.12:g.(?_96609994)_(122161548_?)del, NCBI36: NC_000006.10:g.(?_97164591)_(122524393_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139465.5, VCV000150641.2 | 1 |